July 28, 2011 at 3:47 pm #73848New lead for myotonic dystrophy
I’ve just come across a new research paper about myotonic dystrophy. Researchers at the University of Valencia in Spain recently identified a new way to block the genetic mutation causing myotonic dystrophy type 1.
Myotonic dystrophy is caused by the inheritance of an expanded piece of repeated DNA. DM1- the most common form of myotonic dystrophy- is caused by the expansion of a repeated section of DNA in a gene called DMPK. A three letter code in this gene is repeated many hundreds of times instead of the usual number which is less than thirty. This repeated section of genetic code interferes with the functions of other proteins in the cell.
It is known that RNA- the carbon copy of DNA which carries genetic messages from the cell nucleus to the rest of the cell in order to build proteins- is key to causing myotonic dystrophy.
The extra repeated section of genetic code in the DMPK gene causes the RNA copy of the gene to get stuck inside the nucleus and grab onto certain other proteins and hold them hostage. This leads to the formation of clumps of RNA and protein in the cell nucleus. The proteins held in these clumps are then unable to perform their normal functions in the cell.
In this new research they used a fruit fly model of myotonic dystrophy to screen a library of small pieces of protein (peptides). They found one promising peptide that stopped the formation of clumps inside the cells of the flies and stopped muscle degeneration. They also tested the peptide in a mouse model of myotonic dystrophy with positive results.
The next step will be to further test this peptide in the laboratory before testing in humans.
The scientific paper was published online July 5, 2011, in Proceedings of the American Academy of Sciences. http://www.pnas.org/content/early/2011/06/27/1018213108.abstractJuly 28, 2011 at 6:29 pm #81246Re: New lead for myotonic dystrophy
This sounds very encouraging news.
Do wish they were working on something larger than
fruit flies though.
Surely it will all take such a long time.
"Even if you are not paranoid, it does not mean they are not out to get you!".taungfoxParticipantPosts: 4,630Joined: 27/09/2010July 29, 2011 at 10:56 am #81248Re: New lead for myotonic dystrophy
I see what you mean about fruit flies, but it actually could save time (and money). They used the flies to quickly sort through the hundreds of peptides to find any that looked promising.
The flies they used have a genetic mutation similar to people with myotonic dystrophy. This mutation has a devastating effect on the flies though and they don’t live past the pupal stage (a little maggot-like larvae in a cocoon). So if the peptide didn’t work, the researchers didn’t see any adult flies emerge from the cocoon. If it did, flies came flying out. The life cycle of fruit flies is very short so it is soon obvious if the peptide drug is working. The researchers then narrowed any promising peptides down to one and tested it in mice. They injected it into mice with myotonic dystrophy then looked at their muscles under a microscope and the muscles looked healthier.
An interesting article from the Wellcome Trust called “Why the Fly?”
Of course we are very different to both flies and mice, so the only way we’re going to know for sure if something will work is by doing clinical trials. Hopefully this will happen in the not too distant future.July 29, 2011 at 10:58 am #81249Re: New lead for myotonic dystrophy
Sorry, the paper is very complicated! I haven’t had time to write a proper full summary of the research yet. Things are very busy at the charity at the moment! If I do manage to write one, I’ll post a link here. Any specific questions you have I’d be happy to answer here.
(Research Communications Officer at the Muscular Dystrophy Campaign)July 29, 2011 at 11:26 am #81250Re: New lead for myotonic dystrophy
the explanation and the link are totally over my head though.
I’m with you on that Tammas!
I am planning on writing a blog post about how the exciting Duchenne research news is good for other people with different types of Muscular dystrophy but in order to do it I need to do lots of reading and I haven’t got the time right now.
This new bit of research is very interesting though, I will tell the other Myotonic dystrophy support group directors about it in case they aren’t aware yet (perhaps they already know) and I’ll post the link to this thread and to the research article on my blog. Will be very handy when Kristina or someone else at MDC writes a layman summary for us.ShonaParticipantPosts: 71Joined: 13/11/2010July 29, 2011 at 3:09 pm #81251Re: New lead for myotonic dystrophy
You’re amazing Shona – I don’t know where you find the time and energy! If you need any help with your blog post, feel free to drop me a line email@example.com or call 0207 8034813.
I’ll try to get to that summary next week. I’ve spent all of this week answering questions about the exon skipping results that came out on Monday. Very exciting, but also very time consuming and I haven’t had a chance to do anything else!
Have a great weekend everyone!July 31, 2011 at 9:24 pm #81252Re: New lead for myotonic dystrophy
I see what you mean about fruit flies, but it actually could save time (and money).
I apologise for my slightly flippant remark.
The fruit flies are of course a valid genetic tool. They were the vehicle for
all the early breakthroughs on chromosomes and genetics.
What I should have said is that we are very pleased that you are keeping us informed
on all these things. We know you are very busy and we appreciate it.
"Even if you are not paranoid, it does not mean they are not out to get you!".taungfoxParticipantPosts: 4,630Joined: 27/09/2010August 1, 2011 at 9:00 am #81253Re: New lead for myotonic dystrophy
Oh no, I quite enjoyed (in a very geeky way) reading about their fruit fly model so I thought I would share. If I hadn’t read the paper I would have had the same opinion as you! Sorry if my post came across in a negative way, I wasn’t criticising.August 5, 2011 at 2:18 pm #81254Re: New lead for myotonic dystrophy
Lay summary of that research paper is now up on the website:
If you have any questions, or feedback, fire away!August 15, 2011 at 7:25 pm #81255Re: New lead for myotonic dystrophy
Thanks for writing the summary! I have a degree in psychology so am used to reading scientific papers but papers on genetics go way over my head. Psychology papers are certainly a hell of a lot easier to understand (or maybe that’s just because I have read lots of them.)ShonaParticipantPosts: 71Joined: 13/11/2010August 16, 2011 at 10:42 am #81256Re: New lead for myotonic dystrophy
That one was particularly difficult to read, but with some persistence and help from Glasgow we got there in the end. If we get any psychology papers I’ll be sure to send them your way because I’m sure I wouldn’t be able to make head nor tail of it
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